Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-10652-z
Abstract: COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber… read more here.
Keywords: novel; coach syndrome; functional validation; mks3 ... See more keywords